Ciliopathies

Overview

Journal N Engl J Med

Specialty General Medicine

Date 2011 Apr 22

PMID 21506742

Citations 740

Authors

Friedhelm Hildebrandt

Thomas Benzing

Nicholas Katsanis

Affiliations

Soon will be listed here.

Citing Articles

Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.

Haim D, Roux N, Boutaud L, Verlin L, Quelin C, Moncler C Eur J Hum Genet. 2025; 33(3):387-392.

PMID: 39955445 PMC: 11894207. DOI: 10.1038/s41431-025-01810-3.

A splicing variant in EFCAB7 hinders ciliary transport and disrupts cardiac development.

Yang X, Wang Q, Li T, Zhou Y, Gao J, Ma W J Biol Chem. 2025; 301(3):108249.

PMID: 39894222 PMC: 11889548. DOI: 10.1016/j.jbc.2025.108249.

Prominosomes - a particular class of extracellular vesicles containing prominin-1/CD133?.

Karbanova J, Thamm K, Fargeas C, Deniz I, Lorico A, Corbeil D J Nanobiotechnology. 2025; 23(1):61.

PMID: 39881297 PMC: 11776279. DOI: 10.1186/s12951-025-03102-w.

Typical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern.

Marzano N, Caprara C, Reis T, Montin D, Pretto S, Rigato M Genes (Basel). 2025; 16(1).

PMID: 39858586 PMC: 11764892. DOI: 10.3390/genes16010039.

A network of interacting ciliary tip proteins with opposing activities imparts slow and processive microtubule growth.

Saunders H, van den Berg C, Hoogebeen R, Schweizer D, Stecker K, Roepman R Nat Struct Mol Biol. 2025; .

PMID: 39856351 DOI: 10.1038/s41594-025-01483-y.

References

Rohatgi R, Scott M . Patching the gaps in Hedgehog signalling. Nat Cell Biol. 2007; 9(9):1005-9. DOI: 10.1038/ncb435. View

Baala L, Romano S, Khaddour R, Saunier S, Smith U, Audollent S . The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 2006; 80(1):186-94. PMC: 1785313. DOI: 10.1086/510499. View

Valente E, Silhavy J, Brancati F, Barrano G, Krishnaswami S, Castori M . Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat Genet. 2006; 38(6):623-5. DOI: 10.1038/ng1805. View

Otto E, Trapp M, Schultheiss U, Helou J, Quarmby L, Hildebrandt F . NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis. J Am Soc Nephrol. 2008; 19(3):587-92. PMC: 2391043. DOI: 10.1681/ASN.2007040490. View

Tallila J, Jakkula E, Peltonen L, Salonen R, Kestila M . Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet. 2008; 82(6):1361-7. PMC: 2427307. DOI: 10.1016/j.ajhg.2008.05.004. View

Lin F, Hiesberger T, Cordes K, Sinclair A, Goldstein L, Somlo S . Kidney-specific inactivation of the KIF3A subunit of kinesin-II inhibits renal ciliogenesis and produces polycystic kidney disease. Proc Natl Acad Sci U S A. 2003; 100(9):5286-91. PMC: 154337. DOI: 10.1073/pnas.0836980100. View

Hildebrandt F, Zhou W . Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 2007; 18(6):1855-71. DOI: 10.1681/ASN.2006121344. View

Torres V, Harris P, Pirson Y . Autosomal dominant polycystic kidney disease. Lancet. 2007; 369(9569):1287-1301. DOI: 10.1016/S0140-6736(07)60601-1. View

Ward C, Hogan M, Rossetti S, Walker D, Sneddon T, Wang X . The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002; 30(3):259-69. DOI: 10.1038/ng833. View

10.

Watnick T, Germino G . From cilia to cyst. Nat Genet. 2003; 34(4):355-6. DOI: 10.1038/ng0803-355. View

11.

Parisi M, Bennett C, Eckert M, Dobyns W, Gleeson J, Shaw D . The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet. 2004; 75(1):82-91. PMC: 1182011. DOI: 10.1086/421846. View

12.

Kaelin Jr W . The von Hippel-Lindau gene, kidney cancer, and oxygen sensing. J Am Soc Nephrol. 2003; 14(11):2703-11. DOI: 10.1097/01.asn.0000092803.69761.41. View

13.

Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K . The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007; 39(7):875-81. DOI: 10.1038/ng2039. View

14.

Otto E, Hoefele J, Ruf R, Mueller A, Hiller K, Wolf M . A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution. Am J Hum Genet. 2002; 71(5):1161-7. PMC: 385091. DOI: 10.1086/344395. View

15.

Jauregui A, Barr M . Functional characterization of the C. elegans nephrocystins NPHP-1 and NPHP-4 and their role in cilia and male sensory behaviors. Exp Cell Res. 2005; 305(2):333-42. DOI: 10.1016/j.yexcr.2005.01.008. View

16.

Nauli S, Alenghat F, Luo Y, Williams E, Vassilev P, Li X . Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells. Nat Genet. 2003; 33(2):129-37. DOI: 10.1038/ng1076. View

17.

Oishi I, Kawakami Y, Raya A, Callol-Massot C, Izpisua Belmonte J . Regulation of primary cilia formation and left-right patterning in zebrafish by a noncanonical Wnt signaling mediator, duboraya. Nat Genet. 2006; 38(11):1316-22. DOI: 10.1038/ng1892. View

18.

Badano J, Mitsuma N, Beales P, Katsanis N . The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet. 2006; 7:125-48. DOI: 10.1146/annurev.genom.7.080505.115610. View

19.

Sohara E, Luo Y, Zhang J, Manning D, Beier D, Zhou J . Nek8 regulates the expression and localization of polycystin-1 and polycystin-2. J Am Soc Nephrol. 2008; 19(3):469-76. PMC: 2391053. DOI: 10.1681/ASN.2006090985. View

20.

Kozminski K, Johnson K, Forscher P, Rosenbaum J . A motility in the eukaryotic flagellum unrelated to flagellar beating. Proc Natl Acad Sci U S A. 1993; 90(12):5519-23. PMC: 46752. DOI: 10.1073/pnas.90.12.5519. View